A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle.

ABSTRACT: The aim of this study was to characterize the phenotype and to identify the genetic etiology of a syndromic form of ichthyosis congenita (IC) observed in Italian Chianina cattle and to estimate the prevalence of the deleterious allele in the population. Sporadic occurrence of different forms of ichthyosis including IC have been previously reported in cattle. However, so far, no causative genetic variant has been found for bovine IC. Nine affected cattle presenting congenital xerosis, hyperkeratosis and scaling of the skin as well as urolithiasis and cystitis associated with retarded growth were examined. Skin histopathology revealed a severe, diffuse orthokeratotic hyperkeratosis with mild to moderate epidermal hyperplasia. The pedigree records indicated a monogenic recessive trait. Homozy

SUBMITTER: Jacinto JGP 

PROVIDER: S-EPMC8550120 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature